Genetics of reticular pseudodrusen in age-related macular degeneration.

Trends Genet

Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC 3052, Australia. Electronic address:

Published: April 2022

AI Article Synopsis

  • Reticular pseudodrusen (RPD) are deposits found under the retina, often linked to advanced age-related macular degeneration (AMD).
  • RPD has genetic risk factors that overlap with known AMD-risk regions, suggesting a shared genetic basis.
  • Improved imaging techniques could help identify specific genetic causes of RPD, enhancing our understanding of its biological mechanisms.

Article Abstract

Reticular pseudodrusen (RPD) are subretinal deposits that, when observed with age-related macular degeneration (AMD), form a distinct phenotype, often associated with late-stage disease. To date, RPD genetic risk associations overlap six well-established AMD-risk regions. Determining RPD-specific underlying genetic causes by using adequate imaging methods should improve our understanding of the pathophysiology of RPD.

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Source
http://dx.doi.org/10.1016/j.tig.2022.01.003DOI Listing

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